Which type ofAmyloidosis is caused by mutation of the transthyretin protein ?
**Core Concept**
Amyloidosis refers to a group of diseases characterized by the deposition of amyloid fibrils in various tissues, leading to organ dysfunction. Transthyretin (TTR) is a transport protein that carries thyroxine and retinol in the bloodstream. Mutations in the TTR gene can lead to the production of abnormal TTR proteins, which can misfold and aggregate to form amyloid fibrils.
**Why the Correct Answer is Right**
The correct answer is related to the pathogenesis of amyloidosis, specifically the type associated with TTR mutations. Mutations in the TTR gene lead to the production of abnormal TTR proteins that are prone to misfolding and aggregation. This leads to the deposition of amyloid fibrils in various tissues, including the heart, nerves, and kidneys, resulting in organ dysfunction. The mechanism of TTR aggregation is not fully understood, but it is thought to involve the formation of oligomers and fibrils that can interact with and damage cellular components.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not accurately describe the type of amyloidosis caused by TTR mutations. Other types of amyloidosis, such as AL amyloidosis, are caused by mutations in different proteins.
**Option B:** This option is incorrect because it is not a specific type of amyloidosis. Amyloidosis can be classified into several types, including AL, AA, and hereditary amyloidosis, but this option does not accurately describe the type caused by TTR mutations.
**Option C:** This option is incorrect because it is a type of amyloidosis caused by mutations in the apolipoprotein A1 gene, not the TTR gene.
**Clinical Pearl / High-Yield Fact**
It is essential to remember that TTR amyloidosis can be inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease. This can lead to a significant risk of disease transmission to offspring.
**Correct Answer:** C. Familial Amyloid Polyneuropathy (FAP)